Full data view for gene NFIX

Information The variants shown are described using the transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.17G>A r.(?) p.(Cys6Tyr) Unknown - VUS g.13106668G>A g.12995854G>A NFIX(NM_001365902.1):c.17G>A (p.C6Y) - NFIX_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.90_99del r.(?) p.(Trp30Cysfs*24) Unknown - pathogenic (dominant) g.13135897_13135906del g.13025083_13025092del NM_002501.3:c.90_99del - NFIX_000029 - PubMed: Klaassens 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 25118028-Pat5 PubMed: Klaassens 2015 - F - - - - - - - 1 Denny Schanze
+?/. - c.92T>C r.(?) p.(Phe31Ser) Unknown - likely pathogenic g.13135899T>C g.13025085T>C NFIX(NM_001271043.2):c.116T>C (p.F39S) - NFIX_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.112C>T r.(?) p.(Arg38Cys) Unknown - pathogenic (dominant) g.13135919C>T g.13025105C>T NM_001271043.2:c.136C>T - NFIX_000031 - PubMed: Martinez 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 26200704-Pat4 PubMed: Martinez 2015 - M - - - - - - - 1 Denny Schanze
?/. - c.139C>G r.(?) p.(Arg47Gly) Unknown - VUS g.13135946C>G - NFIX(NM_001365902.3):c.139C>G (p.(Arg47Gly)) - NFIX_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.142del r.(?) p.(Met48Cysfs*9) Unknown - pathogenic (dominant) g.13135949del g.13025135del NM_002501.3:c.142del - NFIX_000033 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P7 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+?/. - c.154G>A r.(?) p.(Glu52Lys) Unknown - likely pathogenic g.13135961G>A g.13025147G>A - - NFIX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154_155insT r.(?) p.(Glu52Valfs*67) Unknown - pathogenic (dominant) g.13135961_13135962insT g.13025147_13025148insT NM_002501.3:c.154_155insT - NFIX_000034 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P8 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+?/. - c.157G>A r.(?) p.(Glu53Lys) Unknown - likely pathogenic g.13135964G>A - NFIX(NM_001271043.2):c.181G>A (p.E61K) - NFIX_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.157_177del r.(?) p.(Glu53_Glu59del) Unknown - pathogenic (dominant) g.13135964_13135984del g.13025150_13025170del NM_002501.3:c.157_177del - NFIX_000035 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR blood - MALNS;SOTOS2 P9 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.157_177del r.(?) p.(Glu53_Glu59del) Unknown - pathogenic (dominant) g.13135964_13135984del g.13025150_13025170del NM_002501.3:c.157_177del - NFIX_000035 - PubMed: Priolo 2012 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 22982744-Pat1 PubMed: Priolo 2012 - F - - - - - - - 1 Denny Schanze
+/. 2 c.161G>C r.(?) p.(Arg54Pro) Unknown - pathogenic (dominant) g.13135968G>C g.13025154G>C NM_001271043.2:c.185G>C - NFIX_000036 - PubMed: Martinez 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 26200704-Pat5 PubMed: Martinez 2015 - F - - - - - - - 1 Denny Schanze
+/. 2 c.179T>C r.(?) p.(Leu60Pro) Unknown - pathogenic (dominant) g.13135986T>C g.13025172T>C NM_002501.3:c.179T>C - NFIX_000037 - PubMed: Yoneda 2012 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 Pat1 PubMed: Yoneda 2012 - F - - - - - - - 1 Denny Schanze
+/. 2 c.182T>C r.(?) p.(Leu61Pro) Unknown - pathogenic (dominant) g.13135989T>C g.13025175T>C NM_002501.3:c.182T>C - NFIX_000038 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P10 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.187G>T r.(?) p.(Glu63*) Unknown - pathogenic (dominant) g.13135994G>T g.13025180G>T NM_002501.3:c.187G>T - NFIX_000039 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P11 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.191del r.(?) p.(Lys64Serfs*30) Unknown - pathogenic (dominant) g.13135998del g.13025184del NM_002501.3:c.191del - NFIX_000040 - PubMed: Gurrieri 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 261933830-Pat3 PubMed: Gurrieri 2015 - M - - - - - - - 1 Denny Schanze
+/. 2 c.200_201dup r.(?) p.(Lys68Serfs*27) Unknown - pathogenic (dominant) g.13136007_13136008dup g.13025193_13025194dup NM_002501.3:c.200_201dup - NFIX_000041 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA SEQ-NG blood - MALNS;SOTOS2 P12 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. - c.200_201dup r.(?) p.(Lys68Serfs*27) Unknown - likely pathogenic (dominant) g.13136007_13136008dup g.13025193_13025194dup NM_001271043.1:c.224_225dup:p.(Lys76Serfs*27) - NFIX_000041 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1080 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - VUS g.13136027C>T g.13025213C>T NFIX(NM_001271043.2):c.244C>T (p.R82W) - NFIX_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.222_223insTC r.(?) p.(Leu75Serfs*20) Parent #1 ACMG pathogenic g.13136029_13136030insTC g.13025215_13025216insTC NM_002501.3:c.222_223insTC - NFIX_000086 ACMG PVS1, PS2 PubMed: Anazi 2017 - - De novo - - - - - DNA SEQ-NG - 758-gene panel ID 12DG1080 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.240del r.(?) p.(Lys81ArgfsTer13) Unknown - pathogenic g.13136047del g.13025233del NFIX(NM_001271043.2):c.264delC (p.K89Rfs*13) - NFIX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.248T>G r.(?) p.(Ile83Ser) Unknown - pathogenic (dominant) g.13136055T>G g.13025241T>G NM_002501.3:c.248T>G - NFIX_000042 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P13 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
-?/. - c.252G>T r.(?) p.(Arg84=) Unknown - likely benign g.13136059G>T g.13025245G>T NFIX(NM_001271043.2):c.276G>T (p.R92=) - NFIX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.269dup r.(?) p.(Asp90Glufs*29) Unknown - pathogenic (dominant) g.13136076dup g.13025262dup NM_001271043.2:c.290_291insA - NFIX_000043 - PubMed: Oshima 2017 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 28584646-Pat1 PubMed: Oshima 2017 - M - - - - - - - 1 Denny Schanze
+/. - c.270del r.(?) p.(Phe91SerfsTer3) Unknown - pathogenic g.13136077del g.13025263del NFIX(NM_001271043.2):c.294delC (p.F99Sfs*3) - NFIX_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.280A>C r.(?) p.(Thr94Pro) Unknown - pathogenic (dominant) g.13136087A>C g.13025273A>C NM_002501.3:c.280A>C - NFIX_000044 - PubMed: Priolo 2018, Journal: Priolo 2018 - - Unknown - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P14 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.294del r.(?) p.(Lys99Serfs*36) Unknown - pathogenic (dominant) g.13136101del g.13025287del NM_002501.3:c.294del - NFIX_000045 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P15 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
-?/. - c.298C>T r.(?) p.(Pro100Ser) Unknown - likely benign g.13136105C>T g.13025291C>T NFIX(NM_001271043.2):c.322C>T (p.P108S) - NFIX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.315_316insGGT r.(?) p.(Leu105_Ser106insGly) Unknown - pathogenic (dominant) g.13136122_13136123insGGT g.13025308_13025309insGGT NM_002501.3:c.315_316insGGT - NFIX_000046 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P16 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.317C>T r.(?) p.(Ser106Phe) Unknown - pathogenic (dominant) g.13136124C>T g.13025310C>T NM_002501.3:c.317C>T - NFIX_000047 - PubMed: Priolo 2018, Journal: Priolo 2018 - - Unknown - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P17 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.322_323delinsA r.(?) p.(Pro108Thrfs*27) Unknown - pathogenic (dominant) g.13136129_13136130delinsA g.13025315_13025316delinsA NM_002501.3:c.322_323delinsA - NFIX_000048 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P18 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.325G>T r.(?) p.(Asp109Tyr) Unknown - pathogenic (dominant) g.13136132G>T g.13025318G>T NM_002501.3:c.325G>T - NFIX_000049 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P19 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.328C>T r.(?) p.(Gln110*) Unknown - pathogenic (dominant) g.13136135C>T g.13025321C>T NM_002501.3:c.328C>T - NFIX_000050 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P20 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.337A>G r.(?) p.(Lys113Glu) Unknown - pathogenic (dominant) g.13136144A>G g.13025330A>G NM_002501.3:c.337A>G - NFIX_000051 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P21 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
?/. - c.343C>T r.(?) p.(Arg115Trp) Unknown - VUS g.13136150C>T g.13025336C>T NFIX(NM_001271043.1):c.367C>T (p.(Arg123Trp)) - NFIX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.343C>T r.(?) p.(Arg115Trp) Unknown - pathogenic (dominant) g.13136150C>T g.13025336C>T NM_002501.3:c.343C>T - NFIX_000021 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P22 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.343C>T r.(?) p.(Arg115Trp) Unknown - pathogenic (dominant) g.13136150C>T g.13025336C>T NM_001271043.2:c.367C>T - NFIX_000021 - PubMed: Jezela-Stanek 2016 - - De novo - - - - - DNA SEQ-NG blood - MALNS;SOTOS2 26927468-AB PubMed: Jezela-Stanek 2016 - F - - - - - - - 1 Denny Schanze
+?/. - c.346C>G r.(?) p.(Arg116Gly) Unknown - likely pathogenic g.13136153C>G g.13025339C>G - - NFIX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.346C>G r.(?) p.(Arg116Gly) Unknown - pathogenic (dominant) g.13136153C>G g.13025339C>G NM_002501.3:c.346C>G - NFIX_000024 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P23 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.347G>A r.(?) p.(Arg116Gln) Unknown - pathogenic (dominant) g.13136154G>A g.13025340G>A NM_002501.3:c.347G>A - NFIX_000054 - PubMed: Priolo 2018, Journal: Priolo 2018 - - Unknown - 2/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P24 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.347G>A r.(?) p.(Arg116Gln) Unknown - pathogenic (dominant) g.13136154G>A g.13025340G>A NM_002501.3:c.347G>A - NFIX_000054 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 2/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P25 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+?/. - c.347G>A r.(?) p.(Arg116Gln) Unknown - likely pathogenic g.13136154G>A g.13025340G>A NFIX(NM_001271043.2):c.371G>A (p.R124Q) - NFIX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.347G>C r.(?) p.(Arg116Pro) Unknown - pathogenic (dominant) g.13136154G>C g.13025340G>C NM_002501.3:c.347G>C - NFIX_000055 - PubMed: Gurrieri 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 261933830-Pat1 PubMed: Gurrieri 2015 - F - - - - - - - 1 Denny Schanze
+/. 2 c.358del r.(?) p.(Leu120Cysfs*15) Unknown - pathogenic (dominant) g.13136165del g.13025351del NM_002501.3:c.358delC - NFIX_000055 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P26 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. - c.361C>T r.(?) p.(Arg121Cys) Parent #1 - pathogenic g.13136168C>T g.13025354C>T - - NFIX_000082 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044911 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.362G>C r.(?) p.(Arg121Pro) Unknown - pathogenic (dominant) g.13136169G>C g.13025355G>C NM_002501.3:c.362G>C - NFIX_000056 maternally inherited PubMed: Yoneda 2012 - - Germline - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 Pat2 PubMed: Yoneda 2012 - M - - - - - - - 1 Denny Schanze
-?/. - c.363C>T r.(?) p.(Arg121=) Unknown - likely benign g.13136170C>T g.13025356C>T NFIX(NM_001271043.2):c.387C>T (p.R129=) - NFIX_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.373A>G r.(?) p.(Lys125Glu) Unknown - pathogenic (dominant) g.13136180A>G g.13025366A>G NM_002501.3:c.373A>G - NFIX_000055 - PubMed: Gurrieri 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 261933830-Pat2 PubMed: Gurrieri 2015 - F - - - - - - - 1 Denny Schanze
+?/. - c.373A>G r.(?) p.(Lys125Glu) Unknown ACMG likely pathogenic g.13136180A>G g.13025366A>G - - NFIX_000055 ACMG grading: PM1,PM2,PM5,PP3 9 month old female individual; Global development delay, muscular hypotension, little eye contact Gurrieri et al. 2015. Eur J Med Genet 58: 488 - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 2 c.375G>T r.(?) p.(Lys125Asn) Unknown - pathogenic (dominant) g.13136182G>T g.13025368G>T NM_002501.3:c.375G>T - NFIX_000055 - PubMed: Lu 2017 - - Germline - - - - - DNA SEQ-ON blood - MALNS;SOTOS2 29142766-Pat PubMed: Lu 2017 - - - - - - - - - 1 Denny Schanze
+/. 2 c.383G>A r.(?) p.(Arg128Gln) Unknown - pathogenic (dominant) g.13136190G>A g.13025376G>A NM_002501.3:c.383G>A - NFIX_000056 - PubMed: Priolo 2018, Journal: Priolo 2018 - - Unknown - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P27 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.408delinsTT r.(?) p.(Leu136Phefs*3) Unknown - pathogenic (dominant) g.13136215delinsTT g.13025401delinsTT NM_002501.3:c.408delinsTT - NFIX_000056 - PubMed: Priolo 2018, Journal: Priolo 2018 - - Unknown - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P28 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 2 c.412_413delinsG r.(?) p.(Lys138Glyfs*73) Unknown - pathogenic (dominant) g.13136219_13136220delinsG g.13025405_13025406delinsG NM_002501.3:c.412_413delinsG - NFIX_000057 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P29 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.444G>C r.(?) p.(Glu148Asp) Unknown - pathogenic (dominant) g.13136251G>C g.13025437G>C NM_002501.3:c.444G>C - NFIX_000056 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P30 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic (dominant) g.13136270C>T g.13025456C>T NM_002501.3:c.463C>T - NFIX_000056 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P31 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+?/. - c.467G>C r.(?) p.(Cys156Ser) Unknown - likely pathogenic (dominant) g.13136274G>C g.13025460G>C NM_002501.2:c.467G>C - NFIX_000098 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3647.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.478G>A r.(?) p.(Gly160Ser) Unknown - VUS g.13136285G>A - NFIX(NM_001365902.3):c.478G>A (p.(Gly160Ser)) - NFIX_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.486C>T r.(?) p.(Cys162=) Unknown - likely benign g.13136293C>T g.13025479C>T NFIX(NM_001365902.1):c.486C>T (p.C162=), NFIX(NM_001365902.3):c.486C>T (p.(Cys162=)) - NFIX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.486C>T r.(?) p.(Cys162=) Unknown - likely benign g.13136293C>T - NFIX(NM_001365902.1):c.486C>T (p.C162=), NFIX(NM_001365902.3):c.486C>T (p.(Cys162=)) - NFIX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.499C>A r.(?) p.(His167Asn) Unknown - pathogenic (dominant) g.13136306C>A g.13025492C>A NM_002501.3:c.499C>A - NFIX_000057 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P32 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 2 c.520G>T r.(?) p.(Glu174*) Unknown - pathogenic (dominant) g.13136327G>T g.13025513G>T NM_002501.3:c.520G>T - NFIX_000057 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P33 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. - c.520G>T r.(?) p.(Glu174*) Parent #1 - pathogenic g.13136327G>T g.13025513G>T - - NFIX_000057 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205515 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.520G>T r.(?) p.(Glu174*) Unknown - likely pathogenic (dominant) g.13136327G>T g.13025513G>T NM_001271043.1:c.544G>T:p.(Glu182*) - NFIX_000057 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG2179 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - 1 LOVD
+/. 2 c.542dup r.(?) p.(Tyr181*) Unknown - pathogenic (dominant) g.13136349dup g.13025535dup NM_002501.3:c.542dup - NFIX_000058 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P34 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. - c.559G>T r.(?) p.(Glu187Ter) Unknown - pathogenic g.13136366G>T g.13025552G>T - - NFIX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.559+1G>A r.spl? p.? Unknown - pathogenic g.13136367G>A g.13025553G>A NFIX(NM_001365902.1):c.559+1G>A - NFIX_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559+7C>T r.(=) p.(=) Unknown - VUS g.13136373C>T - NFIX(NM_002501.2):c.559+7C>T (p.?) - NFIX_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.568C>T r.(?) p.(Gln190*) Unknown - pathogenic (dominant) g.13183869C>T g.13073055C>T NM_002501.3:c.568C>T - NFIX_000057 - PubMed: Malan 2010 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 20673863-PatC PubMed: Malan 2010 - F - - - - - - - 1 Denny Schanze
+?/. - c.586C>T r.(?) p.(Gln196*) Unknown - likely pathogenic g.13183887C>T g.13073073C>T - - NFIX_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.618_619del r.(?) p.(Asn207Argfs*76) Unknown - pathogenic g.13183919_13183920del g.13073105_13073106del NFIX(NM_001365902.3):c.618_619delCA (p.N207Rfs*76) - NFIX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.694C>T r.(?) p.(Gln232*) Unknown - pathogenic (dominant) g.13184307C>T g.13073493C>T NM_002501.3:c.694C>T - NFIX_000058 maternal mosaic PubMed: Priolo 2018, Journal: Priolo 2018 - - Germline - 2/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P35 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - 1 Denny Schanze
+/. 4 c.694C>T r.(?) p.(Gln232*) Unknown - pathogenic (dominant) g.13184307C>T g.13073493C>T NM_002501.3:c.694C>T - NFIX_000058 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 2/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P36 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+?/. - c.694C>T r.(?) p.(Gln232Ter) Unknown - likely pathogenic g.13184307C>T g.13073493C>T - - NFIX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697+3_697+6del r.spl? p.? Unknown - VUS g.13184313_13184316del g.13073499_13073502del NFIX(NM_001271043.1):c.721_721+3del (p.?) - NFIX_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.731C>T r.(?) p.(Ser244Phe) Unknown - likely benign g.13184753C>T g.13073939C>T - - NFIX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.759C>G r.(?) p.(Tyr253*) Unknown - pathogenic (dominant) g.13184781C>G g.13073967C>G NM_002501.3:c.759C>G - NFIX_000059 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P37 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
?/. - c.773A>T r.(?) p.(Gln258Leu) Unknown - VUS g.13184795A>T - NFIX(NM_001365902.3):c.773A>T (p.(Gln258Leu)) - NFIX_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.779C>G r.(?) p.(Thr260Ser) Unknown - pathogenic (dominant) g.13184801C>G g.13073987C>G NM_002501.3:c.779C>G - NFIX_000060 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P38 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 6 c.859dup r.(?) p.(Glu287Glyfs*5) Unknown - pathogenic (dominant) g.13186389dup g.13075575dup NM_002501.3:c.859dup - NFIX_000061 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P39 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. - c.955+1G>A r.(?) p.(?) Unknown ACMG pathogenic g.13186486G>A g.13075672G>A - - NFIX_000009 ACMG: PVS1,PM2,PM6; Malan et al. 2010. Am J Hum Genet 87: 189 - - rs398122876 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
-?/. - c.955+284C>T r.(=) p.(=) Unknown - likely benign g.13186769C>T - NFIX(NM_001365902.3):c.955+284C>T - NFIX_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.956-5C>G r.spl? p.? Unknown - likely benign g.13189422C>G g.13078608C>G NFIX(NM_001271043.1):c.980-5C>G (p.?) - NFIX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.956-3del r.spl? p.? Unknown - likely benign g.13189424del - NFIX(NM_002501.2):c.956-3delC (p.?) - NFIX_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1012C>T r.(?) p.(Gln338*) Unknown - pathogenic (dominant) g.13189483C>T g.13078669C>T NM_002501.3:c.1012C>T - NFIX_000062 - PubMed: Klaassens 2015 - - De novo - - - - - DNA PCR, SEQ blood - MALNS;SOTOS2 25118028-Pat6 PubMed: Klaassens 2015 - M - - - - - - - 1 Denny Schanze
+/. 7 c.1055_1064del r.(?) p.(Pro352Leufs*46) Unknown - pathogenic (dominant) g.13189526_13189535del g.13078712_13078721del NM_002501.3:c.1055_1064del - NFIX_000063 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P40 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
-?/. - c.1079-10G>A r.(=) p.(=) Unknown - likely benign g.13192484G>A - NFIX(NM_001365902.3):c.1079-10G>A - NFIX_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1093del r.(?) p.(Thr365GlnfsTer36) Unknown - pathogenic g.13192508del g.13081694del NFIX(NM_001271043.2):c.1117delA (p.T373Qfs*36) - NFIX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1116del r.(?) p.(Ser373Profs*28) Unknown - pathogenic (dominant) g.13192531del g.13081717del NM_002501.3:c.1116del - NFIX_000064 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P41 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
+/. 8 c.1117del r.(?) p.(Ser373Profs*28) Unknown - pathogenic (dominant) g.13192532del g.13081718del NM_002501.3:c.1117del - NFIX_000065 - PubMed: Priolo 2018, Journal: Priolo 2018 - - De novo - 1/42 patients - - - DNA PCR, SEQ, SEQ-NG blood - MALNS;SOTOS2 P42 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - 1 Denny Schanze
-?/. - c.1140G>A r.(?) p.(Ser380=) Unknown - likely benign g.13192555G>A g.13081741G>A NFIX(NM_001365902.1):c.1140G>A (p.S380=), NFIX(NM_001365902.3):c.1140G>A (p.(Ser380=)) - NFIX_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1140G>A r.(?) p.(Ser380=) Unknown - benign g.13192555G>A - NFIX(NM_001365902.1):c.1140G>A (p.S380=), NFIX(NM_001365902.3):c.1140G>A (p.(Ser380=)) - NFIX_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196C>T r.(?) p.(Ser399Leu) Unknown - VUS g.13192611C>T g.13081797C>T NFIX(NM_001365902.1):c.1196C>T (p.S399L) - NFIX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1255-2282C>T r.(=) p.(=) Unknown - likely benign g.13198831C>T g.13088017C>T NFIX(NM_001271043.2):c.1307C>T (p.P436L) - NFIX_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255-2282C>T r.(=) p.(=) Unknown - VUS g.13198831C>T g.13088017C>T NFIX(NM_001271043.2):c.1307C>T (p.P436L) - NFIX_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1255-2260G>A r.(=) p.(=) Unknown - likely benign g.13198853G>A g.13088039G>A NFIX(NM_001271043.2):c.1329G>A (p.P443=) - NFIX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255-2158G>A r.(=) p.(=) Unknown - VUS g.13198955G>A - - - NFIX_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259C>A r.(?) p.(Ser420Ter) Unknown - VUS g.13201117C>A - - - NFIX_000110 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264C>T r.(?) p.(Arg422*) Unknown - VUS g.13201122C>T g.13090308C>T NFIX(NM_001365982.2):c.1141C>T (p.R381*) - NFIX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1267C>T r.(?) p.(Gln423*) Unknown - VUS g.13201125C>T - NFIX(NM_001271043.2):c.1439C>T (p.T480I) - NFIX_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1268A>C r.(?) p.(Gln423Pro) Unknown - VUS g.13201126A>C g.13090312A>C NFIX(NM_001271043.1):c.1440A>C (p.(=)) - NFIX_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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